Raising Baby Caroline: Life With PKU

Amy and Steve were very excited about their first child. She had a healthy pregnancy and every ultrasound showed a healthy, growing baby girl. On February 21, Caroline joined their world and made them the family they always dreamed of. She was perfect – “10 fingers and 10 toes,” Amy said beaming with pride.

Caroline was three days old and Amy wanted to get out of the house for a little while, so her mother took her to Target for a quick break. As they walked through the parking lot, Amy’s phone rang. She saw that it was the pediatrician’s office and assumed they were calling to remind her of Caroline’s first visit scheduled for the next day. Amy answered, “Hello?” The person on the other line sounded very serious and exuded urgency, “Amy, your daughter’s newborn screen showed positive results for PKU. You need to take her to the University hospital immediately.” Amy stopped in her tracks. What did this mean? What is PKU? Was her baby going to die? The person on the phone gave no further information but continued to urge her to get Caroline to the hospital for testing. Amy quickly became hysterical. She called her husband and told him to meet her at the hospital with Caroline.

Once they arrived, the doctors ran additional tests on Caroline to confirm that she did have PKU (Phenylketonuria), a rare metabolic disorder that causes severe irreversible mental and developmental disabilities if not treated from birth. Amy and Steve were terrified. “No one in our family has this. We have lots of nieces and nephews and none of them have it,” Amy told me. The doctors gave them a can of the PKU formula and told her not to use it until they knew if Caroline did, in fact, have PKU. Amy and her family went home; the doctor said he would call by 7:00 that night. They waited.

Finally the call came. The tests confirmed that Caroline had PKU. “We cried a whole lot that night,” Amy said. “I held Caroline all night — I never put her down. She slept in my arms.” The next day was Amy’s birthday. What would become a gift, her mother gave her advice that she thinks of every day. “She told me I had to put Caroline down,” she giggled. “She told me that we are her greatest advocates. This was our new normal and I had to start living it.” And that they did.

PKU is an inherited disorder that causes a person to be unable to process a specific part of proteins called phenylalanine which is present in most foods. Without a closely monitored diet, phenylalanine (or phe, as it is casually called) will build up in the blood stream causing severe brain damage. Because protein is crucial for growth and development, special phe-free formula is given from the point of diagnosis. Individuals with PKU will need to drink this formula for their entire lives to continue to get the necessary protein they need. They will have to stay away from meats, grains, flour, soy products, fish, dairy, and beans; aspartame, the artificial sweetener commonly sold as NutraSweet and Equal, is also forbidden as it contains high levels of phe (so no diet sodas for those living with PKU). The PKU diet is mostly fruits and vegetables, and all portions have to be carefully weighed out.

Caroline started the PKU formula immediately. Fortunately, Amy was able to give her baby breast milk as she had intended; only now it was pumped and carefully measured. It couldn’t be Caroline’s exclusive sustenance.

Despite weekly blood tests and special formula, Amy admits she was in denial for those first few months. Then she started thinking about Caroline’s future – PKU was going to be part of every single aspect of her life. “What was I going to do when she got invited to her first birthday party? I would have to make her a special cupcake. And what about dates when she gets older? And holidays? And vacations?” Suddenly it was very real.

When Caroline was just over five months old, her pediatrician and dietician told Amy it was time to start introducing solid foods. They would introduce one food a week and closely monitor Caroline’s blood levels to determine her tolerance for phe. First was applesauce because apples have the lowest amount of phe. Next were carrots and then squash. She could have a certain amount each day and not any more.

Amy and Steve work closely with a dietician, like all parents of a PKU child, to craft a diet. All of Caroline’s food needs to be carefully weighed. “Preparing a meal for a PKUer is very detailed and much harder than preparing a regular meal. That is why parents are so hesitant on leaving their child with anyone for an extended amount of time.”

Amy and Steve both work full-time jobs, so childcare was a major concern for them. Caroline goes to an in-home daycare. “Our daycare provider is wonderful. She took the time to understand Caroline’s needs and restrictions. I send a notebook with Caroline every day – they have to write down every single thing she ate that day and they are not to rinse or dump anything out. I need to know every bit of what she ate.” Amy explained that there are days when the daycare provider will write that Caroline drank five ounces of milk, but when she sees the bottle she realizes it was only four and a half ounces. “It has to be that specific.”

As Caroline gets a little older and can eat more types of foods, Amy looks to purchase prescription foods made especially for people living with PKU. “I’m a terrible cook,” Amy admitted. “Buying these prepared foods is really my only option to give Caroline some variety in her diet. We want her to have some sort of normalcy when growing up.” The cost of these foods is exponentially higher than the equivalent non-PKU foods. “An 8.8 ounce box of her pasta costs $11. A package of three of her little pizzas are $20.” (By comparison, a typical box of pasta is generally 16 ounces and costs under $5 depending on the brand.) “When this all began, we realized we needed to start a wedding fund, a college fund, and a food fund. People laugh when I say that, but it is not a joke.” Affording PKU foods is a struggle faced by many PKU families.

Amy and her family live in Missouri where state law only requires insurance companies to cover PKU formula and foods until the child is six years old. “The old thinking was that by six a kid’s development is far enough along that they cannot become mentally retarded from PKU. Now we know that even if they cannot regress into that severe state, there are still very serious complications that can happen if they go off the diet.” She told me that if Caroline strays from her diet, she could begin having seizures, develop ticks, and other serious symptoms. “PKU never goes away. Caroline will need this food and the formula for the rest of her life and I don’t know how we will pay for it. We’ll probably have to move to another state that does mandate coverage.” While they once longed for a family with three or four kids, having more children with PKU would put an unfathomable financial strain on them simply because of the cost of food. “We’ll at least have one more somehow.” Amy and Steve have a 25% chance of passing PKU to all future children.

Amy knew of newborn screening prior to giving birth and remembers the nurse telling her it had been done. She said she thinks about that little heel-prick often. “Newborn screening saved my baby’s life. I think daily about what our life would be like if we never had that test. I am so grateful.” In retrospect, Amy knows that if the nurse hadn’t told her the screen had been done, she never would’ve remembered to ask if it was. “I know that there are other parents out there that just leave everything up to the doctors and nurses. While I know that newborn screening is mandated in every state, I just want to make sure parents out there get educated about how important this screening really is. Parents should make sure the test was done before they leave the hospital.”

As she told me her story, she never once got emotional (although I cannot say the same). “I would never say this is a burden. It is hard, but I wouldn’t trade it for the world.” She goes on to say that it does make her sad to see her friends handing their children anything they want to eat. But despite their offers, she insists that she does not want them restricting foods or changing their behaviors out of respect for her. “Life is going to be hard for Caroline and she needs to know that… We want her to know that PKU doesn’t define her, but it will always be a part of her. We intend to raise a strong girl who can handle it.”

I told her how inspiring she is to me as a mother and she said, “You would do the same thing.” She’s right. She’s a mom doing what moms do best – caring for her baby.

This is the first story I’ve read of another parent with PKU. I remember that first phone call, the trip back to the hospital, and being frightened about his future. Unfortunate at the time I was a single mother of 3. I knew nothing of PKU either. We dont live in a state that covers food or formula, however thanks to some local resources we have formula available and he takes Kuvan through the assistance of Biomarin. The foods are expensive and we don’t have any means to provide them. The local grocery store has some special foods, but mostly his consists of fruits and veggies. I’ve learned a lot over the past 9 yrs, and just take things one day at a time.

This story brought tears to my eyes, as I am very familiar with PKU. Three years ago My
first grandaughter was born with mild PKU. I didnt know what it was since noone in
our family ever had it, I researched it and was horrified and frightened. I have learned
alot since then. My grandaughter has the best parents anyone could ask for. My son and
daughter in law. They take such good care of her with her diet. We all learned to deal
with it and she is growing up to be such a bright intelligent little girl. It is very difficult
at times, especially at parties and restaurants but we get through it, we just explain to
her she has to be limited so that she will always feel good. Well they just had a another
baby and yes a 25% chance that she could also have PKU. We were very anxious to hear
the results of the blood test. It came back positive. Now I have two grandaughters with
Mild PKU. My children have to raise two daughters with PKU. We live in Mass. I believe
they have good health insurance to help with the cost of food and formula. I know that
these girls will grow up happy and healthy, they will have each other to get through it together, a great supporting family and the best parents in the world!!!

Amy and Steve, you have both handled finding out about Caroline’s PKU so graciously. I hope you were never worried about what others were thinking or would think. I try to read your posts because every time I learn new things about PKU. I am always amazed at all that goes into fighting this condition. I love the way you have already started paving the way to empower Caroline for the extra difficulties she may have to face. Not that its different from any other parent’s love, but I do like listening to you tell your story and how effortless you make doing the extras seem. And that you know in the end it is what’s going to make her that much stronger of an amazing, young woman. Caroline couldn’t have two better parents. Love to all three of you and if I can ever do anything, just say the word.

Amy,
I had just turned 19 years old when my first daughter was born. It took the hospital a couple of weeks before Harley’s results came back! I was a nervous wreck to find out she has Classical PKU. We took her to seaworld when she was a lil over a year old and we went to get in line to grab some lunch, I remember my oldest(step) son Tyler who was around 7 at the time asking for chicken strips for lunch,I just broke down thinking and being so upset that Harley could never have them. My mom was standing next to me and told me to count my blessings because Harley could be was worse off. As I turned my head to wipe my tears in the corner of my eye I seen a woman pushing a little girl in a wheelchair that would never be able to walk,talk or probably ever be able to feed herself. I was a reminder of GODS love to me that he gave me Harley for a specific reason. She is now 8 years old and in 3rd grade making straight A’s,plays baseball and soccer and you would never even know anything was wrong with her. I now have a 2 year old that does not have PKU but Harley acts no different from the other two children and she will always be my lil sidekick I told her. Every trip to Nemours was worth every penny in gas. I am so thankful that the LORD allows doctors to have the knowledge that they do. Remember Ephesians 5:20!

My oldest daughter will be 20 in January. I still clearly remember that feeling of panic; relived it as I read your story, fresh as the day it happened. We were just back from the pediatrician office for her 2 week check up, all looked good… but waiting for us were 5 messages from the pediatrician who saw her in the hospital. Each of those messages was more urgent and panicked than the last. Possibly the most alarming part is the doctors office then telling me the PKU test was positive and they had NO IDEA what to tell me to do next. I called our pediatrician back, she had answers for me in 30 minutes and we had an appointment with a geneticist and dietitian the next day. Like Amy I have a whole roll of film from that day. That day when they took my perfect daughter and changed her. But… Amy’s mom is 100% right, this is now your normal, live it to the fullest. I sent that baby girl off to college this year, armed with all she needs to know to be successful and the hope that she will use it.

Amy, your story brought tears to my eyes and is one I can relate to. It is almost 12 years since I got that phone call that changed our lives. Thanks so much for sharing and thank you Michelle for helping to raise awareness about PKU!
Brenda, mom to an amazing 12 year old with PKU

Amy:
Your story is similiar to mine. I too found out my first child had PKU, at 6 days old, via a phone call from a nurse. I didn’t understand what PKU was and only heard the voice on the phone saying you must get the baby retested or it could be mentally retarded! I was devastated!! I somehow kept myself together to call my Dr. and get a referal to a specialist. My story goes a bit differently after that….my child did have PKU but only a mild form of it. We monitored her levels frequently but no diet restrictions.
We were also told we had a 25% chance of any future children having PKU. Our 2nd child came along 13 months after our first!! This child also had PKU and we were fine with that because then both kids would be treated the same. There were times when it frustrated us ,and we felt something must be wrong with us as we were batting 100% for PKU children. We now have three children and our youngest DOESN’T have PKU. I wouldn’t believe it and actually had the tests ran again.
Just hang in there and don’t be discouraged from having other children.

Thank you for covering this story, Michelle! It’s so important to raise awareness for newborn screening, PKU and the insurance and financial struggles that can come with this condition.

Amy and Steve, I have eight-month old twin girls, one of whom has PKU. I remember well the night we received confirmation she had PKU. I quickly learned the true meaning of being a”mama bear.” Even though Lucy’s PKU is a struggle for me sometimes, I just remember that I would do anything to protect my happy, healthy baby girl. Thanks for sharing your story, it’s always a comfort to know there are others who can relate.

Amy –
I know another Caroline with PKU.. I just wrote about her and her twin sister today on my blog-
they are amazing young ladies and I hope that their story will give you and your family hope and strength in knowing that you are not alone in living “your new normal” .

thank you for sharing your story, i have a 5 year old boy with pku whom i am trying to adopt because his mother has been absent the majority of his life. he is my world and 4 and a half years ago when i married his daddy and fell in love with his 6 month old little boy, i was thrown into the world of PKU and as the years have gone by i feel better about his future, i just want him to be everything he can be. right now he wants to be superman when he grows up… hes already my superhero

I feel like you just told my own story of how I found out my daughter had PKU. Crying alot, going though denile, finding a babysitter you trust, everything. luckily I live in Ohio where PKU is labled a medical disability so her formula now and as an adult is paid for by the state. I will still have to buy anything extra (patsa, pizza, ect..). My daughter is now 2 1/2 years old and she is the smartest, funniest, prettiest little girl in the world. I had a second little girl that does not have PKU 2 years later so dont lose hope for more children. Right now my daughters favortite thing to eat is butter and jelly sandwiches, you just learn to be more creative. good luck from a member of your PKU community.

My little girl is only 3 weeks old, and we are just starting our journey into PKU world. I am still crying occasionally, but thankfull for my baby being diagnosed early and special formula, and all your posts and support. I do not know how much food will cost, nor how I am going to prepare food, and calculate the amount of phe, how to find a reliable babysitter, how to handle my work, i have to go back in two months, etc. I am hoping for the best. I have a lot of support from my husband, we love our little girl and will do our best for her to have a happy healthy life.

Wow, this sounds so much like my family’s story as well. I will never forget that day. I just couldn’t quite crying, for days and days. Something was wrong with my sweet baby boy and there was nothing I could do about it. It was so scary. Our son is now 9 years old and is healthy and beautiful! I thank God so often for newborn screening, without it, our son would not be the same boy he is today. We have 4 boys, and only the one has PKU. He was our third boy, so PKU was quite a surprise. We decided, after much discussion and prayer, that if our 4th child had PKU, at least he would have someone that would be there with him and would understand like no one else could. We too have raised our son to believe that he can be and do anything his heart desires in life. He has PKU, but it isn’t who he is, and it doesn’t hold him back, it only makes him stronger. Thank you for your story and for spreading the word about PKU and newborn screening.

Heyy this was my parents too I am now 17 years old, just started driving (which by the way, the PKU can affect. If our levels get too high it effects our reaction time) but I am perfectly healthy. I have tons of friends who support me and help me through my meltdowns when I feel sorry for myself not being able to eat like everybody else. I have to deal with the fact that I will never be like everybody else. But God did that on purpose. He gave us PKU because he knows we’re strong enough to handle it. As she gets older, kids will make comments, and they just get worse and worse. I have heard my milk being called horse… stuff… I cried for a week in my room. Plus because she’s a girl, it will be that much harder, her emotions will get the best of her and she will be even more emotional about what people say. Its not easy and I won’t sit here and say it is. I still pray that God will change my genetics and take this away from me. But he doesn’t because he has something in store for me that involves it. There isn’t much you can do for your little girl, but you can help her not stick out like a sore thumb. For school you would pack her a lunch and put her milk in a thermos you can’t see into. That was my hardest thing, people making fun of my milk. And pack food that looks a lot like normal food so there aren’t many questions so there isn’t much to say. And when there is a party at school or something like that, make sure she’s prepared, or she gets to be left our watching the other kids eat cake in front of her and she just pretend she doesn’t care. I’m sorry, I’m not trying to tell you how to raise your child, I just don’t want any other child to suffer with this burden as I have been doing the past 17 almost 18 years. Its hard being made fun of for something you can’t even see and something we had no control over. I was bullied pretty bad for my PKU and nobody should have to deal with that. Oh and btw, when she gets old enough to get off that infant/toddler milk, get her on PhenylAde Essentials. There are different flavors (orange, chocolate that tastes like straight cocoa, strawberry, flavorless, and vanilla) save yourself fights with your daughter, cause trust me, its soo hard to drink it no matter what. Try eating top ramen for every meal. Its tolerable in small portions, but all the time and its a burden.
Again, not trying to tell you how to raise your baby, just showing you that she will grow up to be normal After she’s a few years old she will learn most of the “no foods” and the “yes foods”. And after a few more years, you will actually be asking her if she can eat that or not haha This disorder can be really scary at first but you all will make it through.
Oh and btw, Idk what you heard, but when I was little I was told I couldn’t have babies at all with my PKU, yeah we found out we can, we just have to keep our levels low before and during the pregnancy. I know its really early to be talking about that, but I know that was one of my mom’s concerns, that I wouldn’t be able to have my own baby. We can its just going to take a lot of control, determination, a good support group, and a BUNCH of milk to keep us full. Lol If you have any questions you can totally email me I love making new mommies feel better when they just find out their baby has PKU

My little girl is 12 weeks and our story sounds exactly the same. That vague phone call where you are told that the screening test picked up PKU but no explanation as to what it was. Those first few weeks where the thought of the condition and what it meant for the future made you want to cry. I’m glad my partner and I are positive people as this has helped us get through it. If PKU is what she got, then we are glad it was it and not something like downsyndrome etc. the mixed feeding is a struggle for us as our little princess has a strong opionion that she wants the bottle and not the breast. Hoping the battle of mixed feeding will get easier in time. It’s reassuring to know though that there are other parents out there experiencing the same struggles as us and that we are not alone.

Just saw this and it really takes me back. I just remember holding my own Caroline when that call came, and thinking that this beautiful baby is going to deteriorate right before my eyes. She is now 20 and a junior in college, studying culinary arts and clinical nutrition. Hang in there, it does get easier. PKU does not define who they will become.